Positional cloning: Let's not call it reverse anymore

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations

Life Sciences, Genetics, Molecular Genetics +12

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Alison Goate, Marie‐Christine Chartier‐Harlin, Jeremy Brown et al. · Nature · 1991 · 4.6K citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

Life Sciences, Genetics, Molecular Genetics +10

Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms

David Malkin, Frederick P. Li, Louise C. Strong et al. · Science · 1990 · 3.8K citations

Life Sciences, Genetics, Oncology +17

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +12